Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1564855725 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 5 | |||
rs750033880 | 0.925 | 0.120 | 7 | 66633302 | missense variant | G/A | snv | 1.4E-05 | 3 | ||
rs1057516677 | 0.925 | 0.120 | 16 | 28477875 | stop gained | G/T | snv | 2 | |||
rs113019349 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 2 | |||
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
rs121908199 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 2 | |||
rs1554902052 | 0.925 | 0.120 | 11 | 6617430 | splice acceptor variant | T/C | snv | 2 | |||
rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
rs1555468634 | 0.925 | 0.120 | 16 | 28485965 | splice donor variant | ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- | del | 2 | |||
rs386833645 | 0.925 | 0.120 | 1 | 40097236 | start lost | C/T | snv | 1.4E-05 | 2 | ||
rs386833651 | 0.925 | 0.120 | 1 | 40089409 | splice donor variant | C/T | snv | 2 | |||
rs386833698 | 0.925 | 0.120 | 16 | 28482102 | splice region variant | T/G | snv | 2 | |||
rs386833709 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 2 | ||
rs386833732 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 2 | |||
rs386833966 | 0.925 | 0.120 | 13 | 77000824 | frameshift variant | T/- | delins | 2 | |||
rs386833967 | 0.925 | 0.120 | 13 | 77000845 | frameshift variant | AACA/- | delins | 2.8E-05 | 2 | ||
rs386833969 | 0.925 | 0.120 | 13 | 77000918 | frameshift variant | AT/- | delins | 2 | |||
rs386833975 | 0.925 | 0.120 | 13 | 76995990 | missense variant | A/G | snv | 2 | |||
rs386833979 | 0.925 | 0.120 | 13 | 76996083 | frameshift variant | -/C | delins | 2 | |||
rs587776892 | 0.925 | 0.120 | 20 | 63930871 | inframe deletion | CTC/- | delins | 2 | |||
rs63751177 | 1.000 | 0.120 | 17 | 44351438 | stop gained | G/A | snv | 2 | |||
rs768422260 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 2 | ||
rs786204644 | 0.925 | 0.120 | 13 | 77000667 | frameshift variant | AT/- | delins | 2 | |||
rs786204753 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 2 | |||
rs1060502179 | 1.000 | 0.120 | 11 | 6618823 | missense variant | A/C | snv | 7.0E-06 | 1 |